Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000395857 | SCV000330304 | pathogenic | not provided | 2016-03-15 | criteria provided, single submitter | clinical testing | The c.1604dupG pathogenic variant in the KCNQ2 gene causes a frameshift starting with codonLeucine 536, changes this amino acid to a Proline residue and creates a premature Stop codon atposition 48 of the new reading frame, denoted p.Leu536ProfsX48. This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsensemediatedmRNA decay. |